Hemochromatosis, the silent killer
Hemochromatosis is an iron disorder in which the body loads too much iron. The problem with hemochromatosis is that its early signs and symptoms are nonspecific and often overlap with those of other common conditions.
If we feel fatigue and weakness for months and visit a doctor and she does a typical routine blood test, the test will show iron levels and our doctor will know what to do.
The problem No2 is that even if hemochromatosis is already in progress, a typical routine blood test could show normal levels of iron in our blood.
That's one of the reasons why hemochromatosis is often overlooked and why some of the doctors would advise us to slow down or blame old ages for symptoms.
Or, the problem No3, they come with diabetes/cirrhosis/liver/heart diagnosis and never think to dig further.
Common hemochromatosis symptoms include weakness, fatigue, abdominal pain and joint pain. Later signs and symptoms may include life-threatening conditions; diabetes, heart failure, liver failure and heart abnormalities, hepatic cirrhosis.
So, the key is to catch it before damage is done.
A doctor should consider hemochromatosis when a patient has one or more of these: hyperpigmentation, liver function abnormalities, diabetes, joint pain, impotence, or cardiomyopathy with elevated serum ferritin.
Hemochromatosis occurs in people who a) have two copies of the mutated gene that causes it, one from each parent b) had multiple blood transfusions because of long lasting anemia and c) were taking too much iron intravenously or by injection, or orally in the form of supplements.
The human body stores iron in the form of a protein named ferritin and hemosiderin, an iron-storage complex, all over the body, in liver, spleen, marrow, the first part of the small intestine, skeletal muscle, and other areas.
Healthy women store 2 to 2,5 grams of iron, men store around 3,5 grams mostly in their bone marrow, but hemochromatosis leads to the storage of twenty to even fifty grams.
Hereditary hemochromatosis is present at birth and develops slowly during the life. It is caused by a mutation in a gene that controls the amount of iron the body absorbs from the food we eat and is passed from parents to children.
Those who inherit one abnormal gene won't develop hemochromatosis. They are only considered as a gene mutation carriers and can pass the mutation on to their children. But, they wouldn't develop disease unless they also inherited another abnormal gene from the other parent.
Those who inherit two abnormal genes may develop hemochromatosis. They can also pass the mutation on to their children. But, not everyone who inherits two genes develops problems linked to the iron overload of hemochromatosis.
Hemochromatosis develops gradually and starts many years before first problems became visible what can be detected by liver biopsy.
Most people don't experience signs and symptoms until later in life, usually between the ages of 50 and 60.
Early signs in men are usually connected with liver cirrhosis or diabetes while women feel nonspecific symptoms, fatigue and hair loss and are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.
One of the signs is skin pigmentation that occurs in 85% of cases. The skin can be slate grey or brownish bronze. In 90% of cases, liver is hard, painless, with sharp edges. Enlarged spleen can be palpated in 2/3 of cases.
A loss of libido, impotence and atrophy of testicles are commonly seen in men. The pubic area is affected by hair loss, although total loss of body hair is seen in about 12% of patients.
Obviously, looking at the iron level in the blood is a primary test, thus, a blood test must be focused in there, in fact, the two of them.
The first one measures the amount of iron bound to a protein that carries iron: value >45% is considered to be too high. The second one measures the amount of iron stored in the liver (serum ferritin).
But this is only the beginning. To exclude other conditions, a) those test must be repeated and b) other tests are needed.
An MRI shows fast and clearly is there an iron overload in the liver and the amount of it.
Liver biopsy may be performed too and it shows, along with the iron level, other possible condition such as cirrhosis.
Considering genes, there are five types of hemochromatosis but the majority of cases involving primary iron overload are due to HFE gene.Testing for gene mutations is very important: almost all primary hemochromatosis are caused by the HFE gene mutation.
A negative HFE test, a blood test used to check for hereditary hemochromatosis, does not exclude a diagnosis of iron overload or hemochromatosis.
Therapeutic blood removal, or phlebotomy, is the most common way of iron reduction. The amount of blood removed and how often it's removed depend on age, overall health and the severity of iron overload. ■